Linked Data
dbSNP Id:
rs1254713180
gnomAD v2:
5-134367096-C-T
gnomAD v3:
5-135031406-C-T
gnomAD v4:
5-135031406-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031406C>T , CM000667.2:g.135031406C>T | GRCh38 |
| NC_000005.9:g.134367096C>T , CM000667.1:g.134367096C>T | GRCh37 |
| NC_000005.8:g.134394995C>T | NCBI36 |
| NG_012114.1:g.7869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.272G>A MANE Select | ENSP00000265340.6:p.Arg91Gln | |
| ENST00000265340.11:c.272G>A | ENSP00000265340.6:p.Arg91Gln | |
| ENST00000502676.1:c.272G>A | ENSP00000423624.1:p.Arg91Gln | |
| ENST00000503586.1:c.394G>A | ||
| ENST00000504936.1:n.605G>A | ||
| ENST00000506438.5:c.272G>A | ENSP00000427542.1:p.Arg91Gln | |
| ENST00000507253.5:c.272G>A | ENSP00000422908.1:p.Arg91Gln | |
| NM_002653.4:c.272G>A | NP_002644.4:p.Arg91Gln | |
| NM_002653.5:c.272G>A MANE Select | NP_002644.4:p.Arg91Gln |